The phylogenetic and geographic structure of Y-chromosome haplogroup R1a

R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a panel of 16 244 male subjects from 126 populations sampled across Eurasia, we identified 2923 R1a-M420 Y-chromosomes and analyzed them to a...

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Published inEuropean journal of human genetics : EJHG Vol. 23; no. 1; pp. 124 - 131
Main Authors Underhill, Peter A, Poznik, G David, Rootsi, Siiri, Järve, Mari, Lin, Alice A, Wang, Jianbin, Passarelli, Ben, Kanbar, Jad, Myres, Natalie M, King, Roy J, Di Cristofaro, Julie, Sahakyan, Hovhannes, Behar, Doron M, Kushniarevich, Alena, Šarac, Jelena, Šaric, Tena, Rudan, Pavao, Pathak, Ajai Kumar, Chaubey, Gyaneshwer, Grugni, Viola, Semino, Ornella, Yepiskoposyan, Levon, Bahmanimehr, Ardeshir, Farjadian, Shirin, Balanovsky, Oleg, Khusnutdinova, Elza K, Herrera, Rene J, Chiaroni, Jacques, Bustamante, Carlos D, Quake, Stephen R, Kivisild, Toomas, Villems, Richard
Format Journal Article
LanguageEnglish
Published England Nature Publishing Group 01.01.2015
Subjects
Alleles
Asia
Biology
Chromosomes
Chromosomes, Human, Y
Deoxyribonucleic acid
DNA
Ethnic Groups - genetics
Europe
Evolution, Molecular
Frequency dependence
Gene Frequency
Genetic Linkage
Genetics
Genomes
Haplotypes
Humans
Male
Medicine
Microsatellite Repeats
Mutation
Neolithic
Phylogenetics
Phylogeny
Phylogeography
Polymorphism, Single Nucleotide
Population
Spatial Analysis
Spatial discrimination
Y Chromosomes
Asia
Europe
Iran
Eurasia
United States > US
Italy
Estonia
Croatia
Russia
South Asia
Online AccessGet full text

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Abstract R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a panel of 16 244 male subjects from 126 populations sampled across Eurasia, we identified 2923 R1a-M420 Y-chromosomes and analyzed them to a highly granular phylogeographic resolution. Whole Y-chromosome sequence analysis of eight R1a and five R1b individuals suggests a divergence time of ∼25,000 (95% CI: 21,300-29,000) years ago and a coalescence time within R1a-M417 of ∼5800 (95% CI: 4800-6800) years. The spatial frequency distributions of R1a sub-haplogroups conclusively indicate two major groups, one found primarily in Europe and the other confined to Central and South Asia. Beyond the major European versus Asian dichotomy, we describe several younger sub-haplogroups. Based on spatial distributions and diversity patterns within the R1a-M420 clade, particularly rare basal branches detected primarily within Iran and eastern Turkey, we conclude that the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran.
AbstractList R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a panel of 16 244 male subjects from 126 populations sampled across Eurasia, we identified 2923 R1a-M420 Y-chromosomes and analyzed them to a highly granular phylogeographic resolution. Whole Y-chromosome sequence analysis of eight R1a and five R1b individuals suggests a divergence time of ∼25,000 (95% CI: 21,300-29,000) years ago and a coalescence time within R1a-M417 of ∼5800 (95% CI: 4800-6800) years. The spatial frequency distributions of R1a sub-haplogroups conclusively indicate two major groups, one found primarily in Europe and the other confined to Central and South Asia. Beyond the major European versus Asian dichotomy, we describe several younger sub-haplogroups. Based on spatial distributions and diversity patterns within the R1a-M420 clade, particularly rare basal branches detected primarily within Iran and eastern Turkey, we conclude that the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran.R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a panel of 16 244 male subjects from 126 populations sampled across Eurasia, we identified 2923 R1a-M420 Y-chromosomes and analyzed them to a highly granular phylogeographic resolution. Whole Y-chromosome sequence analysis of eight R1a and five R1b individuals suggests a divergence time of ∼25,000 (95% CI: 21,300-29,000) years ago and a coalescence time within R1a-M417 of ∼5800 (95% CI: 4800-6800) years. The spatial frequency distributions of R1a sub-haplogroups conclusively indicate two major groups, one found primarily in Europe and the other confined to Central and South Asia. Beyond the major European versus Asian dichotomy, we describe several younger sub-haplogroups. Based on spatial distributions and diversity patterns within the R1a-M420 clade, particularly rare basal branches detected primarily within Iran and eastern Turkey, we conclude that the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran.
R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a panel of 16 244 male subjects from 126 populations sampled across Eurasia, we identified 2923 R1a-M420 Y-chromosomes and analyzed them to a highly granular phylogeographic resolution. Whole Y-chromosome sequence analysis of eight R1a and five R1b individuals suggests a divergence time of similar to 25 000 (95% CI: 21 300-29 000) years ago and a coalescence time within R1a-M417 of similar to 5800 (95% CI: 4800-6800) years. The spatial frequency distributions of R1a sub-haplogroups conclusively indicate two major groups, one found primarily in Europe and the other confined to Central and South Asia. Beyond the major European versus Asian dichotomy, we describe several younger sub-haplogroups. Based on spatial distributions and diversity patterns within the R1a-M420 clade, particularly rare basal branches detected primarily within Iran and eastern Turkey, we conclude that the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran.
: R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a panel of 16 244 male subjects from 126 populations sampled across Eurasia, we identified 2923 R1a-M420 Y-chromosomes and analyzed them to a highly granular phylogeographic resolution. Whole Y-chromosome sequence analysis of eight R1a and five R1b individuals suggests a divergence time of ∼25 000 (95% CI: 21 300-29 000) years ago and a coalescence time within R1a-M417 of ∼5800 (95% CI: 4800-6800) years. The spatial frequency distributions of R1a sub-haplogroups conclusively indicate two major groups, one found primarily in Europe and the other confined to Central and South Asia. Beyond the major European versus Asian dichotomy, we describe several younger sub-haplogroups. Based on spatial distributions and diversity patterns within the R1a-M420 clade, particularly rare basal branches detected primarily within Iran and eastern Turkey, we conclude that the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran.European Journal of Human Genetics advance online publication, 26 March 2014; doi:10.1038/ejhg.2014.50.
R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a panel of 16 244 male subjects from 126 populations sampled across Eurasia, we identified 2923 R1a-M420 Y-chromosomes and analyzed them to a highly granular phylogeographic resolution. Whole Y-chromosome sequence analysis of eight R1a and five R1b individuals suggests a divergence time of ∼25 000 (95% CI: 21 300-29 000) years ago and a coalescence time within R1a-M417 of ∼5800 (95% CI: 4800-6800) years. The spatial frequency distributions of R1a sub-haplogroups conclusively indicate two major groups, one found primarily in Europe and the other confined to Central and South Asia. Beyond the major European versus Asian dichotomy, we describe several younger sub-haplogroups. Based on spatial distributions and diversity patterns within the R1a-M420 clade, particularly rare basal branches detected primarily within Iran and eastern Turkey, we conclude that the initial episodes of haplogroup R1a diversification likely occurred in the vicinity of present-day Iran.
Author Kushniarevich, Alena
Pathak, Ajai Kumar
Lin, Alice A
Šaric, Tena
Khusnutdinova, Elza K
Grugni, Viola
Villems, Richard
Farjadian, Shirin
Herrera, Rene J
Wang, Jianbin
Kanbar, Jad
Myres, Natalie M
Underhill, Peter A
Bahmanimehr, Ardeshir
Passarelli, Ben
King, Roy J
Chaubey, Gyaneshwer
Semino, Ornella
Rootsi, Siiri
Quake, Stephen R
Balanovsky, Oleg
Yepiskoposyan, Levon
Sahakyan, Hovhannes
Šarac, Jelena
Di Cristofaro, Julie
Behar, Doron M
Chiaroni, Jacques
Bustamante, Carlos D
Poznik, G David
Kivisild, Toomas
Järve, Mari
Rudan, Pavao
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ContentType Journal Article
Copyright Copyright Nature Publishing Group Jan 2015
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Snippet R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using a...
: R1a-M420 is one of the most widely spread Y-chromosome haplogroups; however, its substructure within Europe and Asia has remained poorly characterized. Using...
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StartPage 124
SubjectTerms Alleles
Asia
Biology
Chromosomes
Chromosomes, Human, Y
Deoxyribonucleic acid
DNA
Ethnic Groups - genetics
Europe
Evolution, Molecular
Frequency dependence
Gene Frequency
Genetic Linkage
Genetics
Genomes
Haplotypes
Humans
Male
Medicine
Microsatellite Repeats
Mutation
Neolithic
Phylogenetics
Phylogeny
Phylogeography
Polymorphism, Single Nucleotide
Population
Spatial Analysis
Spatial discrimination
Y Chromosomes
Title The phylogenetic and geographic structure of Y-chromosome haplogroup R1a
URI https://www.ncbi.nlm.nih.gov/pubmed/24667786
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https://pubmed.ncbi.nlm.nih.gov/PMC4266736
Volume 23
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